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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Agammaglobulinemia (D000361)
Parent Node: Genetic Diseases, X-Linked (D040181)
..Starting node ..Bruton type agammaglobulinemia (C537409)
Child Nodes:
Sister Nodes:
..Aarskog Syndrome (C535331) 1
..Abruzzo Erickson syndrome (C535559)
..Achromatopsia incomplete, X-linked (C538165)
..Adrenal Hypoplasia, Congenital, with Precocious Puberty (C564568)
..Agammaglobulinemia, X-linked, type 2 (C538057)
..Aicardi Syndrome (D058540) 1
..Aland Island Eye Disease (C562664)
..Alpha-Thalassemia Myelodysplasia Syndrome (C563023)
..Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis (C564570)
..Alzheimer Disease 16 (C567463)
..Androgen-Insensitivity Syndrome (D013734) 2
..Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency (C567533)
..Anemia, sideroblastic spinocerebellar ataxia (C536358)
..Anemia, X-Linked, without Thrombocytopenia (C564429)
..Anencephaly and spina bifida X-linked (C536359)
..Aneurysm, Intracranial Berry, 5 (C563670)
..Angioma serpiginosum, X-linked (C536366)
..Arthrogryposis multiplex congenita, distal, X-linked (C535380)
..Arthrogryposis, X-Linked, Type V (C564574)
..Arts syndrome (C535388)
..Atypical Mycobacteriosis, Familial, X-Linked 1 (C567070)
..Atypical Mycobacteriosis, Familial, X-Linked 2 (C567068)
..Barth Syndrome (D056889) 2
..Bornholm Eye Disease (C564092)
..Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, And (C564519)
..Branchial arch syndrome X-linked (C537102)
..Brunner Syndrome (C563156)
..Bruton type agammaglobulinemia (C537409)
..Bulbo-Spinal Atrophy, X-Linked (D055534) 1
..Bullous Dystrophy, Hereditary Macular Type (C563065)
..Cantu syndrome (C535572)
..Cardiac valvular dysplasia, X-linked (C535576)
..Cardiomyopathy, Dilated, 3A (C564721)
..Cataract, congenital, with microcornea or slight microphthalmia (C535338)
..Chondrodysplasia punctata 2, X-linked dominant (C538416)
..Chondrodysplasia punctata, brachytelephalangic (C535941)
..Choroideremia (D015794) 2
..Chromosome Xp11.23-P11.22 Duplication Syndrome (C567585)
..Chromosome Xq28 Duplication Syndrome (C567580)
..Cleft Palate with Ankyloglossia (C564442)
..Cleft palate X-linked (C536426)
..Cone Dystrophy, X-Linked, 1 (C564439)
..Cone dystrophy, x-linked, with tapetal-like sheen (C535975)
..Cone-Rod Dystrophy, X-Linked, 2 (C564717)
..Cone-Rod Dystrophy, X-Linked, 3 (C564507)
..Cone-Rod Dystrophy, X-Linked, Type 1 (C564438)
..Congenital alopecia X-linked (C535981)
..Congenital Heart Defects, X-Linked (C567444)
..Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (C562515)
..Congenital idiopathic intestinal pseudoobstruction (C535532)
..Corpus Callosum, Partial Agenesis of, X-Linked (C564115)
..Craniofacioskeletal Syndrome (C567471)
..Deafness, High-Frequency Sensorineural, X-Linked (C564432)
..Deafness, X-Linked 1 (C564433)
..Deafness, X-Linked 3 (C564727)
..Deafness, X-Linked 4 (C564723)
..Deafness, X-Linked 5 (C564472)
..Dent Disease (D057973) 1
..Dent disease 1 (C538212)
..Dent Disease 2 (C564487)
..Dyggve-Melchior-Clausen syndrome (C535726)
..Dyserythropoietic Anemia with Thrombocytopenia (C564525)
..Dyskeratosis Congenita (D019871) 3
..Dystonia 3, Torsion, X-Linked (C564048)
..Ectodermal Dysplasia 1, Anhidrotic (D053358) 1
..Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema (C564538)
..Ectodermal dysplasia, hypohidrotic, with immune deficiency (C536181)
..Ehlers-Danlos syndrome type 5 (C536197)
..Epidermodysplasia Verruciformis, X-Linked (C564430)
..Epilepsy, Female-Restricted, with Mental Retardation (C564715)
..Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders (C564505)
..Episodic Muscle Weakness, X-Linked (C564565)
..Exudative Vitreoretinopathy, Familial, X-Linked Recessive (C564428)
..Fabry Disease (D000795) 2
..Fetal akinesia syndrome, X-linked (C537921)
..Fg Syndrome 5 (C564480)
..Focal Dermal Hypoplasia (D005489) 1
..Glycogen Storage Disease Type IIb (D052120)
..Glycogen Storage Disease Type VIII (D006015)
..Glycogen Storage Disease, Type IXA2 (C567579)
..Glycogen Storage Disease, Type IXD (C564485)
..Granulomatous Disease, Chronic (D006105) 7
..Hemophilia B (D002836)
..Heterotaxy, visceral, X-linked (C538116)
..Heterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia (C564725)
..Heterotopia, Periventricular, Ehlers-Danlos Variant (C564492)
..Hodgkin disease, X-linked pseudoautosomal (C538326)
..Hydrocephalus With Cerebellar Agenesis (C564407)
..Hydrocephalus, X-linked (C536078)
..Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction (C564408)
..Hyper-IgM Immunodeficiency Syndrome, Type 1 (D053307) 1
..Hyperekplexia and Epilepsy (C564474)
..Hypertrichosis congenital generalized X-linked (C538388)
..Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked (C537149)
..Hypogammaglobulinemia, X-Linked (C562478)
..Hypoparathyroidism, X-Linked (C562782)
..Hypospadias 1, X-Linked (C567482)
..Hypospadias 2, X-Linked (C567462)
..Ichthyosis, X-Linked (D016114) 2
..Ichthyosis, X-Linked, Complicated (C567443)
..Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome (C580192)
..Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein (C564120)
..Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked (C562780)
..Isolated Noncompaction of the Ventricular Myocardium (D056830) 5
..Joubert Syndrome 10 (C567582)
..Keratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)
..Leigh Syndrome, X-Linked (C564114)
..Leukoencephalopathy With Metaphyseal Chondrodysplasia (C567065)
..Liver Glycogenosis, X-Linked, Type II (C564421)
..Lymphoproliferative Syndrome, X-Linked, 2 (C564469)
..Macrothrombocytopenia, X-Linked (C564526)
..Macular Dystrophy, X-Linked (C564110)
..Major Affective Disorder 2 (C564108)
..Martin-Probst Deafness-Mental Retardation Syndrome (C564495)
..MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome (C536029)
..Megalocornea (C562829)
..Membranoproliferative Glomerulonephritis, X-Linked (C564423)
..Mental Retardation, Skeletal Dysplasia, and Abducens Palsy (C564101)
..Mental Retardation, X-Linked (D038901) 134
..Mental Retardation, X-Linked, Syndromic 12 (C564106)
..Mental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
..Mental Retardation, X-Linked, Syndromic, Turner Type (C567476)
..Mental Retardation, X-Linked, Syndromic, Zdhhc9-Related (C567586)
..Mental Retardation, X-Linked, With Panhypopituitarism (C567485)
..Mental Retardation, X-Linked, Znf711-Related (C567583)
..Microcephaly microcornea syndrome Seemanova type (C537539)
..Microphthalmia, Isolated, with Coloboma 1 (C564531)
..Microphthalmia, syndromic 7 (C537466)
..Midline Defects, X-Linked (C564054)
..Mitral valve prolapse, familial, X-linked (C537478)
..Modifier, X-Linked, for Neurofunctional Defects (C564098)
..Multiple Pterygium Syndrome, X-Linked (C564072)
..Muscular Dystrophy, Duchenne (D020388) 1
..Muscular Dystrophy, Emery-Dreifuss (D020389) 10
..Muscular Dystrophy, Progressive Pectorodorsal (C564095)
..Myopathy, Reducing Body, X-Linked, Childhood-Onset (C567468)
..Myopathy, Reducing Body, X-Linked, Early-Onset, Severe (C567469)
..Myopathy, X-Linked, with Excessive Autophagy (C564093)
..Myopia 1 (C564091)
..Myopia 13 (C564473)
..Nance-Horan syndrome (C538336)
..Nasodigitoacoustic syndrome (C538337)
..NEMO mutation with immunodeficiency (C538399)
..Nephrogenic Syndrome of Inappropriate Antidiuresis (C564491)
..Nephrolithiasis, X-Linked Recessive, with Renal Failure (C562901)
..Neural tube defects X-linked (C536410)
..Neuropathy, Hereditary Sensory, X-Linked (C564090)
..Neutropenia, Severe Congenital, X-Linked (C564539)
..Night blindness, congenital stationary (C536122) 4
..Nystagmus 5, Infantile Periodic Alternating (C564478)
..Oculocerebrorenal Syndrome (D009800) 1
..Ophthalmoplegia, External, and Myopia (C564087)
..Opitz GBBB Syndrome, X-Linked (C567932)
..Optic atrophy, X-linked (C537125)
..Ornithine Carbamoyltransferase Deficiency Disease (D020163) 1
..Ovarian Dysgenesis 2 (C564499)
..Panhypopituitarism X-linked (C538613)
..Parathyroid Glands, Agenesis Of (C563238)
..Parkinson Disease 12 (C564486)
..Parkinsonism, early onset with mental retardation (C537179)
..Pelizaeus-Merzbacher Disease (D020371) 1
..Phosphoglycerate Kinase 1 Deficiency (C567067)
..Pigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
..Premature Ovarian Failure 2a (C564498)
..Progressive hearing loss stapes fixation (C536424)
..Properdin Deficiency, Type II (C564075)
..Properdin Deficiency, Type III (C564076)
..Properdin deficiency, X-linked (C537241)
..PROSTATE CANCER, HEREDITARY, X-LINKED 1 (OMIM:300147)
..Prostate Cancer, Hereditary, X-Linked 2 (C567477)
..Protoporphyria, Erythropoietic, X-Linked Dominant (C567464)
..Proud Syndrome (C563110)
..Ptosis, Hereditary Congenital 2 (C564553)
..Radial Ray Deficiency, X-Linked (C564523)
..Radiation Sensitivity of Natural Killer Activity (C564066)
..Radius absent anogenital anomalies (C535281)
..Reticuloendotheliosis, X-linked (C538362)
..Retinitis Pigmentosa 3 (C564520)
..Retinitis Pigmentosa 34 (C564475)
..Retinitis Pigmentosa 6 (C564065)
..Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness (C567595)
..Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked (C564467)
..Russell-Silver Syndrome, X-Linked (C562446)
..Short Stature, Idiopathic, X-Linked (C564479)
..Simpson-Golabi-Behmel syndrome (C537340)
..Simpson-Golabi-Behmel Syndrome, Type 2 (C564567)
..Sketetal dysplasia coarse facies mental retardation (C536671)
..Spastic paraplegia 16, X-linked (C536643)
..Spastic paraplegia 2, X-linked (C536857)
..Spastic Paraplegia 34, X-Linked (C567465)
..Spina Bifida, X-Linked (C564459)
..Spinal Muscular Atrophy, Distal, X-Linked 3 (C564506)
..Spinocerebellar Ataxia, X-Linked 1 (C563134)
..Spinocerebellar Ataxia, X-Linked 5 (C567478)
..Spinocerebellar ataxia, X-linked, 3 (C537315)
..Split-Hand Foot Malformation 2 (C564056) 1
..Spondyloepimetaphyseal Dysplasia, X-Linked (C564714)
..Spondyloepiphyseal Dysplasia Tarda, X-Linked (C562447)
..Spondylometaphyseal Dysplasia, X-Linked (C563124)
..Surfactant Metabolism Dysfunction, Pulmonary, 4 (C567461)
..TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
..Terminal Osseous Dysplasia and Pigmentary Defects (C564554)
..Testicular Germ Cell Tumor 1 (C564559)
..Thrombocytopenia 1 (C564052)
..Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis (C564050)
..Thrombocytopenia, X-Linked, Intermittent (C564053)
..Thrombocytosis, Familial X-Linked (C564532)
..Thrombophilia, X-Linked, Due To Factor Ix Defect (C567581)
..Thyroxine-Binding Globulin Deficiency (C564049)
..Tooth Agenesis, Selective, X-Linked, 1 (C567060)
..Torticollis keloids cryptorchidism renal dysplasia (C536970)
..VACTERL Association With Hydrocephalus (C564751)
..VACTERL association with hydrocephaly, X-linked (C536520)
..Vasquez Hurst Sotos syndrome (C536533)
..Vesicoureteral Reflux, X-Linked (C564042)
..Von Willebrand Disease, X-Linked Form (C564041)
..Wells Jankovic syndrome (C536692)
..Wieacker syndrome (C536703)
..Wiskott-Aldrich Syndrome (D014923) 1
..X Inactivation, Familial Skewed, 1 (C564716)
..X Inactivation, Familial Skewed, 2 (C564572)
..X-linked adrenal hypoplasia congenita (C536757)
..X-Linked Chondrodysplasia Punctata 1 (C580533)
..X-Linked Combined Immunodeficiency Diseases (D053632) 1
..X-Linked Infantile Nystagmus (C580539)
..X-linked sideroblastic anemia (C536761)
..X-linked tetra-amelia (C536497)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1525

Name:

Bruton type agammaglobulinemia

Definition:

Alternative IDs:

OMIM:300755

ParentIDs:

MESH:D000361|MESH:D040181

TreeNumbers:

C15.378.147.142/C537409 |C15.604.515.032/C537409 |C16.320.322/C537409 |C20.673.088/C537409

Synonyms:

Slim Mappings:

Blood disease|Genetic disease (inborn)|Immune system disease|Lymphatic disease

Reference:

MedGen: C537409
MeSH: C537409
OMIM: 300755;

Genes: BTK;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0004432	Agammaglobulinemia
3	HP:0000509	Conjunctivitis
4	HP:0001648	Cor pulmonale
5	HP:0000750	Delayed speech and language development
6	HP:0002014	Diarrhea
7	HP:0003729	Enteroviral dermatomyositis syndrome
8	HP:0001412	Enteroviral hepatitis
9	HP:0000031	Epididymitis
10	HP:0000365	Hearing impairment
11	HP:0002383	Infectious encephalitis
12	HP:0002732	Lymph node hypoplasia
13	HP:0001287	Meningitis
14	HP:0002664	Neoplasm
15	HP:0000388	Otitis media
16	HP:0002090	Pneumonia
17	HP:0000024	Prostatitis
18	HP:0000999	Pyoderma
19	HP:0000010	Recurrent urinary tract infections
20	HP:0003095	Septic arthritis
21	HP:0000246	Sinusitis

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000061.2(BTK):c.1955T>C (p.Leu652Pro)	695	BTK	Pathogenic	128622212	RCV000012145;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100604898	100604898	NM_000061.2:c.1955T>C	NP_000052.1:p.Leu652Pro	NC_000023.10:g.100604898A>G	OMIM Allelic Variant:300300.0051	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.1906G>T (p.Glu636Ter)	695	BTK	Pathogenic	128622211	RCV000012143;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100608184	100608184	NM_000061.2:c.1906G>T	NP_000052.1:p.Glu636Ter	NC_000023.10:g.100608184C>A	OMIM Allelic Variant:300300.0049	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.1889T>A (p.Met630Lys)	695	BTK	Pathogenic	128621210	RCV000012142;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100608201	100608201	NM_000061.2:c.1889T>A	NP_000052.1:p.Met630Lys	NC_000023.10:g.100608201A>T	OMIM Allelic Variant:300300.0048	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.1838G>A (p.Gly613Asp)	695	BTK	Pathogenic	128621209	RCV000012141;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100608252	100608252	NM_000061.2:c.1838G>A	NP_000052.1:p.Gly613Asp	NC_000023.10:g.100608252C>T	OMIM Allelic Variant:300300.0047	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.1820C>A (p.Ala607Asp)	695	BTK	Pathogenic	128621208	RCV000012140;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100608270	100608270	NM_000061.2:c.1820C>A	NP_000052.1:p.Ala607Asp	NC_000023.10:g.100608270G>T	OMIM Allelic Variant:300300.0046	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.1773C>A (p.Tyr591Ter)	695	BTK	Pathogenic	128621207	RCV000012139;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100608317	100608317	NM_000061.2:c.1773C>A	NP_000052.1:p.Tyr591Ter	NC_000023.10:g.100608317G>T	OMIM Allelic Variant:300300.0045	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.1766A>G (p.Glu589Gly)	695	BTK	Pathogenic	128621206	RCV000012138;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100608324	100608324	NM_000061.2:c.1766A>G	NP_000052.1:p.Glu589Gly	NC_000023.10:g.100608324T>C	OMIM Allelic Variant:300300.0044	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.1741T>C (p.Trp581Arg)	695	BTK	Pathogenic	128621205	RCV000012137;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100608867	100608867	NM_000061.2:c.1741T>C	NP_000052.1:p.Trp581Arg	NC_000023.10:g.100608867A>G	OMIM Allelic Variant:300300.0043	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.1685G>C (p.Arg562Pro)	695	BTK	Pathogenic	104894770	RCV000012147;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100608923	100608923	NM_000061.2:c.1685G>C	NP_000052.1:p.Arg562Pro	NC_000023.10:g.100608923C>G	OMIM Allelic Variant:300300.0053	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.1684C>T (p.Arg562Trp)	695	BTK	Pathogenic	128621204	RCV000012136;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100608924	100608924	NM_000061.2:c.1684C>T	NP_000052.1:p.Arg562Trp	NC_000023.10:g.100608924G>A	OMIM Allelic Variant:300300.0042	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.1673_1680delAATTTCCA (p.Lys558Serfs)	695	BTK	Likely pathogenic	193922126	RCV000029411;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100608928	100608935	NM_000061.2:c.1673_1680delAATTTCCA	NP_000052.1:p.Lys558Serfs	NC_000023.10:g.100608928_100608935delTGGAAATT	-	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.1574G>A (p.Arg525Gln)	695	BTK	Pathogenic	128620183	RCV000012095;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100609675	100609675	NM_000061.2:c.1574G>A	NP_000052.1:p.Arg525Gln	NC_000023.10:g.100609675C>T	OMIM Allelic Variant:300300.0001	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.1559G>A (p.Arg520Gln)	695	BTK	Pathogenic	128621202	RCV000012131;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100611047	100611047	NM_000061.2:c.1559G>A	NP_000052.1:p.Arg520Gln	NC_000023.10:g.100611047C>T	OMIM Allelic Variant:300300.0037	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.1558C>T (p.Arg520Ter)	695	BTK	Pathogenic	128621201	RCV000012130;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100611048	100611048	NM_000061.2:c.1558C>T	NP_000052.1:p.Arg520Ter	NC_000023.10:g.100611048G>A	OMIM Allelic Variant:300300.0036	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.1516T>C (p.Cys506Arg)	695	BTK	Pathogenic	128621200	RCV000012129;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100611090	100611090	NM_000061.2:c.1516T>C	NP_000052.1:p.Cys506Arg	NC_000023.10:g.100611090A>G	OMIM Allelic Variant:300300.0035	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.1511A>T (p.Asp504Val)	695	BTK	Likely pathogenic	193922125	RCV000029410;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100611095	100611095	NM_000061.2:c.1511A>T	NP_000052.1:p.Asp504Val	NC_000023.10:g.100611095T>A	-	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.1506C>A (p.Cys502Ter)	695	BTK	Pathogenic	41310709	RCV000012128;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100611100	100611100	NM_000061.2:c.1506C>A	NP_000052.1:p.Cys502Ter	NC_000023.10:g.100611100G>T	OMIM Allelic Variant:300300.0034	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.1455C>A (p.Tyr485Ter)	695	BTK	Pathogenic	193922124	RCV000029409;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100611151	100611151	NM_000061.2:c.1455C>A	NP_000052.1:p.Tyr485Ter	NC_000023.10:g.100611151G>T	-	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.1288A>G (p.Lys430Glu)	695	BTK	Pathogenic	128620184	RCV000012096;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100611833	100611833	NM_000061.2:c.1288A>G	NP_000052.1:p.Lys430Glu	NC_000023.10:g.100611833T>C	OMIM Allelic Variant:300300.0002	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.1275C>A (p.Tyr425Ter)	695	BTK	Pathogenic	128621199	RCV000012127;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100611846	100611846	NM_000061.2:c.1275C>A	NP_000052.1:p.Tyr425Ter	NC_000023.10:g.100611846G>T	OMIM Allelic Variant:300300.0033	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.1223T>C (p.Leu408Pro)	695	BTK	Pathogenic	128621198	RCV000012126;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100611898	100611898	NM_000061.2:c.1223T>C	NP_000052.1:p.Leu408Pro	NC_000023.10:g.100611898A>G	OMIM Allelic Variant:300300.0032	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.1001A>C (p.Tyr334Ser)	695	BTK	Pathogenic	128621196	RCV000012121;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100613399	100613399	NM_000061.2:c.1001A>C	NP_000052.1:p.Tyr334Ser	NC_000023.10:g.100613399T>G	OMIM Allelic Variant:300300.0027	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.998A>G (p.His333Arg)	695	BTK	Likely pathogenic	193922133	RCV000029418;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100613402	100613402	NM_000061.2:c.998A>G	NP_000052.1:p.His333Arg	NC_000023.10:g.100613402T>C	-	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.919A>G (p.Arg307Gly)	695	BTK	Pathogenic	128621195	RCV000012120;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100613660	100613660	NM_000061.2:c.919A>G	NP_000052.1:p.Arg307Gly	NC_000023.10:g.100613660T>C	OMIM Allelic Variant:300300.0026	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.895-2A>G	695	BTK	Likely pathogenic	193922132	RCV000029417;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100613686	100613686	NM_000061.2:c.895-2A>G		NC_000023.10:g.100613686T>C	-	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.862C>T (p.Arg288Trp)	695	BTK	Pathogenic	128621194	RCV000012119;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100614313	100614313	NM_000061.2:c.862C>T	NP_000052.1:p.Arg288Trp	NC_000023.10:g.100614313G>A	OMIM Allelic Variant:300300.0025	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.840-1G>A	695	BTK	Likely pathogenic	193922131	RCV000029416;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100614336	100614336	NM_000061.2:c.840-1G>A		NC_000023.10:g.100614336C>T	-	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.777-2A>G	695	BTK	Likely pathogenic	193922129	RCV000029414;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100615140	100615140	NM_000061.2:c.777-2A>G		NC_000023.10:g.100615140T>C	-	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.777-3C>G	695	BTK	Uncertain significance	193922130	RCV000029415;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100615141	100615141	NM_000061.2:c.777-3C>G		NC_000023.10:g.100615141G>C	-	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.763C>T (p.Arg255Ter)	695	BTK	Pathogenic	128621193	RCV000012116;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100615569	100615569	NM_000061.2:c.763C>T	NP_000052.1:p.Arg255Ter	NC_000023.10:g.100615569G>A	OMIM Allelic Variant:300300.0022	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.755G>A (p.Trp252Ter)	695	BTK	Pathogenic	128621192	RCV000012115;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100615577	100615577	NM_000061.2:c.755G>A	NP_000052.1:p.Trp252Ter	NC_000023.10:g.100615577C>T	OMIM Allelic Variant:300300.0021	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.718G>T (p.Glu240Ter)	695	BTK	Pathogenic	128621191	RCV000012114;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100615614	100615614	NM_000061.2:c.718G>T	NP_000052.1:p.Glu240Ter	NC_000023.10:g.100615614C>A	OMIM Allelic Variant:300300.0020	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.557dupA (p.Pro187Alafs)	695	BTK	Pathogenic	864321665	RCV000012111;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100617192	100617192	NM_000061.2:c.557dupA	NP_000052.1:p.Pro187Alafs	NC_000023.10:g.100617192dupT	BTK @ LOVD:BTK_000030,OMIM Allelic Variant:300300.0017	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.472_475delACAG (p.Thr158Profs)	695	BTK	Likely pathogenic	193922128	RCV000029413;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100617594	100617597	NM_000061.2:c.472_475delACAG	NP_000052.1:p.Thr158Profs	NC_000023.10:g.100617594_100617597delCTGT	-	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.391+143dupA	695	BTK	Uncertain significance	193922127	RCV000029412;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100624843	100624843	NM_000061.2:c.391+143dupA		NC_000023.10:g.100624843dupT	-	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.389delA (p.Asn130Thrfs)	695	BTK	Pathogenic	864321664	RCV000012110;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100624988	100624988	NM_000061.2:c.389delA	NP_000052.1:p.Asn130Thrfs	NC_000023.10:g.100624988delT	BTK @ LOVD:BTK_000408,OMIM Allelic Variant:300300.0016	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.338T>A (p.Val113Asp)	695	BTK	Pathogenic	128621190	RCV000012109;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100625039	100625039	NM_000061.2:c.338T>A	NP_000052.1:p.Val113Asp	NC_000023.10:g.100625039A>T	OMIM Allelic Variant:300300.0015	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.310-1G>C	695	BTK	Pathogenic	864321662	RCV000012107;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100625068	100625068	NM_000061.2:c.310-1G>C		NC_000023.10:g.100625068C>G	BTK @ LOVD: BTK_000414,OMIM Allelic Variant:300300.0013	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.310-2A>G	695	BTK	Pathogenic	864321663	RCV000012108;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100625069	100625069	NM_000061.2:c.310-2A>G		NC_000023.10:g.100625069T>C	BTK @ LOVD:BTK_000417,OMIM Allelic Variant:300300.0014	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.228_231delAAGA (p.Glu76Aspfs)	695	BTK	Pathogenic	864321660	RCV000012105;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100629533	100629536	NM_000061.2:c.228_231delAAGA	NP_000052.1:p.Glu76Aspfs	NC_000023.10:g.100629533_100629536delTCTT	BTK @ LOVD: BTK_000641,OMIM Allelic Variant:300300.0011	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.141+3_141+4del	695	BTK	Pathogenic	864321661	RCV000012106;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100630128	100630129	NM_000061.2:c.141+3_141+4del		NC_000023.10:g.100630128_100630129delTT	BTK @ LOVD:BTK_000331,OMIM Allelic Variant:300300.0012	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.97A>C (p.Thr33Pro)	695	BTK	Pathogenic	128620189	RCV000012104;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100630176	100630176	NM_000061.2:c.97A>C	NP_000052.1:p.Thr33Pro	NC_000023.10:g.100630176T>G	OMIM Allelic Variant:300300.0010	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.83G>A (p.Arg28His)	695	BTK	Pathogenic	128620185	RCV000012101;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100630190	100630190	NM_000061.2:c.83G>A	NP_000052.1:p.Arg28His	NC_000023.10:g.100630190C>T	OMIM Allelic Variant:300300.0005	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.43C>T (p.Gln15Ter)	695	BTK	Pathogenic	128620188	RCV000012098;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100630230	100630230	NM_000061.2:c.43C>T	NP_000052.1:p.Gln15Ter	NC_000023.10:g.100630230G>A	OMIM Allelic Variant:300300.0009	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.37C>T (p.Arg13Ter)	695	BTK	Pathogenic	128620187	RCV000012097;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100630236	100630236	NM_000061.2:c.37C>T	NP_000052.1:p.Arg13Ter	NC_000023.10:g.100630236G>A	OMIM Allelic Variant:300300.0008	C0221026 300755 X-linked agammaglobulinemia
NM_000061.2(BTK):c.2T>C (p.Met1Thr)	695	BTK	Pathogenic	128620186	RCV000012102;	N	MedGen:C0221026,OMIM:300755,ORPHA:47,SNOMED CT:65880007	X	100630271	100630271	NM_000061.2:c.2T>C	NP_000052.1:p.Met1Thr	NC_000023.10:g.100630271A>G	OMIM Allelic Variant:300300.0006	C0221026 300755 X-linked agammaglobulinemia